Citation Impact
Citing Papers
A Gene Network Regulating Lysosomal Biogenesis and Function
2009 StandoutScience
Innate Immune Activation Through Nalp3 Inflammasome Sensing of Asbestos and Silica
2008 StandoutScience
PDGFRA Activating Mutations in Gastrointestinal Stromal Tumors
2003 StandoutScience
Mutations in NALP12 cause hereditary periodic fever syndromes
2008
NLRP3/Cryopyrin Is Necessary for Interleukin-1β (IL-1β) Release in Response to Hyaluronan, an Endogenous Trigger of Inflammation in Response to Injury
2009
The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives
1999 StandoutNature
The N-terminal Domain of Drosophila Gram-negative Binding Protein 3 (GNBP3) Defines a Novel Family of Fungal Pattern Recognition Receptors
2009 StandoutNobel
Spotlight on Spotted Mice: A Review of White Spotting Mouse Mutants and Associated Human Pigmentation Disorders
2004
NALPs: a novel protein family involved in inflammation
2003
Genes responsible for human hereditary deafness: symphony of a thousand
1996
Positional cloning moves from perditional to traditional
1995
Gout-associated uric acid crystals activate the NALP3 inflammasome
2006 StandoutNature
AIM2 recognizes cytosolic dsDNA and forms a caspase-1-activating inflammasome with ASC
2009 StandoutNature
Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma
2005 StandoutNature
Oncogenic kinase signalling
2001 StandoutNature
Epithelial-Mesenchymal Transitions in Development and Disease
2009 Standout
NODs: intracellular proteins involved in inflammation and apoptosis
2003
Mouse Models for Four Types of Waardenburg Syndrome
2003
Unravelling the pathogenesis of inflammatory bowel disease
2007 StandoutNature
Cell Signaling by Receptor Tyrosine Kinases
2010 Standout
Cdk5rap2 exposes the centrosomal root of microcephaly syndromes
2011
Cryopyrin activates the inflammasome in response to toxins and ATP
2006 StandoutNature
Inflammasome-mediated dysbiosis regulates progression of NAFLD and obesity
2012 StandoutNature
Shared Principles in NF-κB Signaling
2008 Standout
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
1994 Nature
Recognition of microorganisms and activation of the immune response
2007 StandoutNature
Defects in enteric innervation and kidney development in mice lacking GDNF
1996 StandoutNature
Critical Role for NALP3/CIAS1/Cryopyrin in Innate and Adaptive Immunity through Its Regulation of Caspase-1
2006
Inflammatory caspases and inflammasomes: master switches of inflammation
2006
Pattern Recognition Receptors and Inflammation
2010 Standout
Familial autoinflammatory diseases: genetics, pathogenesis and treatment
2005
Mitochondria: In Sickness and in Health
2012 Standout
RET mutations in human disease
1996
Inflammasome-Mediated Disease Animal Models Reveal Roles for Innate but Not Adaptive Immunity
2009
Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist
2004
Novel CENPJ mutation causes Seckel syndrome
2010
C-cell hyperplasia, pheochromocytoma and sympathoadrenal malformation in a mouse model of multiple endocrine neoplasia type 2B
2000
Isolation and directed differentiation of neural crest stem cells derived from human embryonic stem cells
2007
Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF‐κB and caspase‐1
2002
Recognition of Commensal Microflora by Toll-Like Receptors Is Required for Intestinal Homeostasis
2004 Standout
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
1994 StandoutNature
A TRP Channel that Senses Cold Stimuli and Menthol
2002 StandoutNobel
Differential activation of the inflammasome by caspase-1 adaptors ASC and Ipaf
2004 StandoutNature
Non-canonical inflammasome activation targets caspase-11
2011 StandoutNature
GDNF signalling through the Ret receptor tyrosine kinase
1996 StandoutNature
Identification of Bacterial Muramyl Dipeptide as Activator of the NALP3/Cryopyrin Inflammasome
2004
Enhanced Phosphatidylinositol 3-Kinase Activity and High Phosphorylation State of Its Downstream Signalling Molecules Mediated by Ret with the MEN 2B Mutation
1999
The Inflammasomes
2010 Standout
Spectrum of clinical features in Muckle‐Wells syndrome and response to anakinra
2004
Recognition of Hyaluronan Released in Sterile Injury Involves a Unique Receptor Complex Dependent on Toll-like Receptor 4, CD44, and MD-2
2007 StandoutNobel
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
1997 StandoutNature
Cerebral organoids model human brain development and microcephaly
2013 StandoutNature
A Rap GTPase interactor, RADIL, mediates migration of neural crest precursors
2007
Renal agenesis and the absence of enteric neurons in mice lacking GDNF
1996 StandoutNature
Single Lgr5 stem cells build crypt-villus structures in vitro without a mesenchymal niche
2009 StandoutNature
Inferences, questions and possibilities in Toll-like receptor signalling
2004 StandoutNatureNobel
Pathogen Recognition and Innate Immunity
2006 Standout
Screening for Active Small Molecules in Mitochondrial Complex I Deficient Patient's Fibroblasts, Reveals AICAR as the Most Beneficial Compound
2011
Neurotrophic factor receptor RET: structure, cell biology, and inherited diseases
2007
Inflammasomes in health and disease
2012 StandoutNature
A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease
1994
Cryopyrin-associated periodic syndromes and autoinflammation
2007
CHD7 cooperates with PBAF to control multipotent neural crest formation
2010 StandoutNature
Genetic clues to understanding periodic fevers, and possible therapies
2002
Melanocytes and theMicrophthalmiaTranscription Factor Network
2004
Nods, Nalps and Naip: intracellular regulators of bacterial-induced inflammation
2003
Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function
2009 StandoutNobel
Neurotrophins: Roles in Neuronal Development and Function
2001 Standout
Interactions Between the Microbiota and the Immune System
2012 StandoutScience
PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
1996 StandoutScience
Gain-of-Function Mutations of c- kit in Human Gastrointestinal Stromal Tumors
1998 StandoutScience
W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity
1995 StandoutNature
Inflammation and autoimmunity caused by a SHP1 mutation depend on IL-1, MyD88, and a microbial trigger
2008 StandoutNobel
III. Role of the RET signal transduction pathway in development of the mammalian enteric nervous system
1998
Fas Preassociation Required for Apoptosis Signaling and Dominant Inhibition by Pathogenic Mutations
2000 StandoutScienceNobel
Myofibroblasts. II. Intestinal subepithelial myofibroblasts
1999
Multipotential progenitors of the mammalian enteric nervous system capable of colonising aganglionic bowel in organ culture
1999
A novel pathogenesis of megacolon in Ncx/Hox11L.1 deficient mice.
1997
NOD-LRR PROTEINS: Role in Host-Microbial Interactions and Inflammatory Disease
2005
Signalling by the RET receptor tyrosine kinase and its role in the development of the mammalian enteric nervous system
1999
Human Homolog of patched , a Candidate Gene for the Basal Cell Nevus Syndrome
1996 StandoutScience
Dissection of Autophagosome Formation Using Apg5-Deficient Mouse Embryonic Stem Cells
2001 StandoutNobel
IL-Converting Enzyme/Caspase-1 Inhibitor VX-765 Blocks the Hypersensitive Response to an Inflammatory Stimulus in Monocytes from Familial Cold Autoinflammatory Syndrome Patients
2005
Regulation of Rate of Cartilage Differentiation by Indian Hedgehog and PTH-Related Protein
1996 StandoutScience
Common origin and developmental dependence on c-ret of subsets of enteric and sympathetic neuroblasts
1996
The Structure of Haplotype Blocks in the Human Genome
2002 StandoutScience
Mutations in the Extracellular Domain Cause RET Loss of Function by a Dominant Negative Mechanism
1998
The Human Genome Project: Reaching the Finish Line
1998 StandoutScienceNobel
Works of Patrick Edery being referenced
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
1995
New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes
2002
Ret in human development and oncogenesis
1997
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.
1998
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
1995
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
2009
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
1996
Mutations of the RET proto-oncogene in Hirschsprung's disease
1994 Nature
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
2000
The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease
2000
Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.
1994